A case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1
A case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1
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DOI：
10.1016/j.oraloncology.2021.105553
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发表时间：
2021-10-06
期刊：
影响因子：
4.8
通讯作者：
Hibi, Hideharu
中科院分区：
文献类型：
--
作者：
Ichimura, Norihisa;Yamamoto, Noriyuki;Hibi, Hideharu
Maffucci 综合征于 1881 年首次被描述，是一种罕见的非遗传性骨骼疾病，其特征是多发性软骨瘤合并软组织血管瘤。最近的研究表明 IDH1/2 的体细胞突变导致了 Maffucci 综合征的发病机制。这项研究描述了第一例携带 IDH1 突变的 Maffucci 综合征病例，该突变与口腔粘膜血管瘤有关。一名 32 岁男性，童年时被诊断患有马夫奇综合征，因左侧颊粘膜肿块于 2020 年 4 月转诊至我科。该肿块质地柔软，呈圆顶状，有暗红色突起，边界清晰，尺寸约为 15 x 10 mm。磁共振成像显示有一个尺寸为 13 x 10 毫米的肿块，在 T2 加权图像上呈现高信号。由于诊断为血管瘤，在局麻下手术切除了血管病变。然后，我们使用从切除的肿瘤组织和外周血中提取的 DNA 分析了 IDH1/2 序列。分析显示肿瘤组织中 IDH1 存在杂合突变，对应于 R132C 取代。外周血DNA中不存在该突变。经过一年多的切除，患者目前没有肿瘤复发，并正在接受随访，以便及早发现复发性血管瘤。
Maffucci syndrome, first described in 1881, is a rare, non-hereditary skeletal disorder characterized by multiple enchondmmas in combination with soft tissue hemangiomas. Recent studies have implicated somatic mutations in IDH1/2 contributing to the pathogenesis of Maffucci syndrome. This study describes the first case of Maffucci syndrome harboring a mutation in IDH1, which was associated with a hemangioma in the oral mucosa. A 32-year-old man, who was diagnosed with Maffucci syndrome during childhood, was referred to our department in April 2020 due to a mass in the left buccal mucosa. The mass was soft, dome-shaped, had dark red protrusions and well-defined borders, and the dimensions were approximately 15 x 10 mm. Magnetic resonance imaging revealed a mass with a dimension of 13 x 10 mm, which appeared hyperintense on T2-weighted images. The vascular lesion was surgically resected under local anesthesia owing to hemangioma diagnosis. We then analyzed the IDH1/2 sequences using DNA extracted from the excised tumor tissue and peripheral blood. The analysis revealed the presence of a heterozygous mutation in IDH1 in the tumor tissue, corresponding to an R132C substitution. The mutation was not present in peripheral blood DNA. After over one year of resection, the patient is presently free from tumor recurrence and is under follow-up for the early detection of recurrent hemangioma.